ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

por Bahena-Bahena, D., López-Valdez, J., Raymond, K., Salinas-Marín, R., Ortega-García, A., Ng, B.G., Freeze, H.H., Ruíz-García, M., Martínez-Duncker, I.
Publicado 2014

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

por González-Domínguez, C.A., Raya-Trigueros, A., Manrique-Hernández, S., González Jaimes, A., Salinas-Marín, R., Molina-Garay, C., Carrillo-Sánchez, K., Flores-Lagunes, L.L., Jiménez-Olivares, M., Dehesa-Caballero, C., Alaez-Versón, C., Martínez-Duncker, I.
Publicado 2020

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

por González-Domínguez, C.A., Villarroel, C.E., Rodríguez-Morales, M., Manrique-Hernández, S., González-Jaimes, A., Olvera-Rodriguez, F., Beutelspacher, K., Molina-Garay, C., Carrillo-Sánchez, K., Flores-Lagunes, L.L., Jiménez-Olivares, M., Muñoz-Rivas, A., Cruz-Muñoz, M.E., Mora-Montes, H.M., Salinas-Marín, R., Alaez-Verson, C., Martínez-Duncker, I.
Publicado 2021